Genetic mutation analysis for full-length mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) via whole blood DNA sequencing
This test checks for mutations in the ARGS gene that may cause a rare genetic disorder called Maroteaux-Lamy syndrome, which affects how your body breaks down certain sugars.
["This test helps diagnose a genetic disorder that can cause joint stiffness, organ damage, and other health issues over time."]
Key facts at a glance
- LOINC
- 101391-1
- Short code
- PAH gene Full Mut Anl Bld/T
- Synonyms
- PAH gene Full Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test looks for specific changes (mutations) in the DNA sequence of the ARGS gene. These mutations can prevent your body from making enough of an enzyme called arylsulfatase B, which is needed to break down certain sugars properly. If these mutations are present, it may indicate Maroteaux-Lamy syndrome.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms like joint pain, swelling, or stiffness, or if family members have a history of similar conditions. It’s also used for prenatal testing if there’s a known risk of the disorder in your family.
Sample Collection and Preparation
A small blood sample will be taken from your arm. The blood is then processed to extract DNA for genetic testing. This process is safe and typically done in a lab setting.
What to Expect Before the Test
No special preparation is needed for this test. You may be asked to fast or avoid certain medications, but this depends on the clinical reason for the test. Always follow your healthcare provider’s instructions.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Maroteaux-Lamy syndrome is a lysosomal storage disorder caused by mutations in the ARGS gene. Without proper enzyme activity, harmful sugars build up in your body, leading to joint deformities, liver and spleen enlargement, and other complications. Early diagnosis can help manage symptoms and plan appropriate treatment or support.
Frequently asked questions
How long will it take to get my results?
What does a positive result mean?
Can this test be used for prenatal screening?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy